Metadata | |
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ID | DOID:0110086 |
Name | asphyxiating thoracic dystrophy 2 |
Definition | An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/17468754 |
Xrefs | |
Synonyms |
ATD2 [EXACT] short-rib thoracic dysplasia 2 with or without polydactyly [EXACT] SRTD2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |